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    NXPE1 neurexophilin and PC-esterase domain family member 1 [ Homo sapiens (human) ]

    Gene ID: 120400, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NXPE1provided by HGNC
    Official Full Name
    neurexophilin and PC-esterase domain family member 1provided by HGNC
    Primary source
    HGNC:HGNC:28527
    See related
    Ensembl:ENSG00000095110 AllianceGenome:HGNC:28527
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM55A
    Summary
    Predicted to be located in extracellular region. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward colon (RPKM 27.8) See more
    Orthologs
    all
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    Genomic context

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    Location:
    11q23.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114518934..114559881, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114529349..114570293, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (114389656..114430603, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nocturnin pseudogene Neighboring gene MPRA-validated peak1476 silencer Neighboring gene neurexophilin and PC-esterase domain family member 2 Neighboring gene small nucleolar RNA U13 Neighboring gene neurexophilin and PC-esterase domain family member 2 pseudogene 1 Neighboring gene histone deacetylase 2 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:114473708-114474907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3916 Neighboring gene neurexophilin and PC-esterase domain family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3917 Neighboring gene uncharacterized LOC105369506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114717517-114718016

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human gastrointestinal tract-specific transcriptome and proteome as defined by RNA sequencing and antibody-based profiling. Gremel G, et al. J Gastroenterol, 2015 Jan. PMID 24789573
    2. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA, et al. Nat Genet, 2011 Mar. PMID 21297633, Free PMC Article
    3. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • MGC34290

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NXPE family member 1
    Names
    family with sequence similarity 55, member A
    protein FAM55A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001367953.1 → NP_001354882.1  NXPE family member 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC020549
      Consensus CDS
      CCDS91598.1
      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Related
      ENSP00000512373.1, ENST00000696071.1
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    2. NM_001395504.1 → NP_001382433.1  NXPE family member 1 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC020549
      Consensus CDS
      CCDS91598.1
      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Related
      ENSP00000439503.2, ENST00000534921.3
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    3. NM_152315.5 → NP_689528.2  NXPE family member 1 isoform 2

      See identical proteins and their annotated locations for NP_689528.2

      Status: VALIDATED

      Source sequence(s)
      AC020549, AW009077
      Consensus CDS
      CCDS8372.1
      UniProtKB/Swiss-Prot
      Q8N323
      Related
      ENSP00000251921.2, ENST00000251921.6
      Conserved Domains (1) summary
      pfam06312
      Location:3 → 123
      Neurexophilin; Neurexophilin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      114518934..114559881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542598.4 → XP_011540900.1  NXPE family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011540900.1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    2. XM_047426372.1 → XP_047282328.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    3. XM_047426371.1 → XP_047282327.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    4. XM_011542599.4 → XP_011540901.1  NXPE family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011540901.1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    5. XM_011542597.4 → XP_011540899.1  NXPE family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011540899.1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    6. XM_011542596.4 → XP_011540898.1  NXPE family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011540898.1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122 → 265
      Neurexophilin

    7. XM_047426373.1 → XP_047282329.1  NXPE family member 1 isoform X2

      UniProtKB/TrEMBL
      F5H6W7
      Related
      ENSP00000442984.1, ENST00000536312.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      114529349..114570293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367675.1 → XP_054223650.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    2. XM_054367676.1 → XP_054223651.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    3. XM_054367674.1 → XP_054223649.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    4. XM_054367673.1 → XP_054223648.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323

    5. XM_054367677.1 → XP_054223652.1  NXPE family member 1 isoform X2

      UniProtKB/TrEMBL
      F5H6W7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N323.2 GenPept UniProtKB/Swiss-Prot:Q8N323

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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